Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins

Gynecol Endocrinol. 2016 Oct;32(10):792-795. doi: 10.1080/09513590.2016.1197199. Epub 2016 Jul 5.


The co-occurrence of gonadal agenesis alongside hypoplastic derivatives of the paramesonephric ducts has rarely been observed.

Patient(s): 16-year-old dizygotic twin sisters were referred to our department because of primary amenorrhea. X-ray, bone densitometry, ultrasonography, pelvic MRI and measurement of pituitary, ovary, and thyroid hormones were performed. Both twins showed hypergonadotropic hypogonadism, bilateral gonadal agenesis, fallopian tube, uterus, and vaginal hypoplasia but normal kidney and urinary tract structures and skeletal system. Analysis of Q-banded chromosomes in peripheral blood for the search for centromeric X-chromosome DNA and SRY gene was normal as well as the molecular analysis of FMR1, GDF9, and BMP15 genes. Estradiol gel was administered for one year followed by estroprogestin treatment. Both twins growth increased; breast development was stimulated and first menses occurred. Deregulation in the expression of the various HOX genes along the axis of the developing reproductive tract in a determinate time of development may be one of the mechanisms involved in the origin of this complex and rare association.

Keywords: Dizygotic twins; Müllerian derivatives; gonadal agenesis; paramesonephric ducts; primary amenorrhea.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Adolescent
  • Amenorrhea / congenital
  • Amenorrhea / diagnosis*
  • Female
  • Gonadal Dysgenesis / diagnosis*
  • Humans
  • Mullerian Ducts / abnormalities*
  • Twins, Dizygotic